ClinVar Miner

Submissions for variant NM_000518.4(HBB):c.266T>G (p.Leu89Arg)

dbSNP: rs33940204
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000016262 SCV000036530 other HEMOGLOBIN BORAS 2017-12-12 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV004724745 SCV005335843 pathogenic HBB-related disorder 2024-05-27 no assertion criteria provided clinical testing The HBB c.266T>G variant is predicted to result in the amino acid substitution p.Leu89Arg. This variant, also referred to as Hb Borås and p.Leu88Arg using legacy nomenclature, has been reported in individuals with anemia (Hollender et al. 1969. PubMed ID: 5789325; Bird et al. 1987. PubMed ID: 3623976; Bae et al. 2023. PubMed ID: 37665291) and has been demonstrated to result in tetramer instability (Hollender et al. 1969. PubMed ID: 5789325). This variant has not been reported in a large population database, indicating this variant is rare. A different missense change impacting the same amino acid (p.Leu89Pro, also referred as Hb Santa Ana) has been reported to be causative for anemia (Goncalves et al. 1994. PubMed ID: 7928381). This variant is interpreted as pathogenic.

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